1. Gene
  2. SNX17 - sorting nexin 17 Gene

SNX17 - sorting nexin 17 Gene

Homo sapiens
Gene ID: 9784 | Gene type: protein coding

About SNX17

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,370,616-27,377,535 (from NCBI)

This gene has 10 transcripts (splice variants), 216 orthologues and 2 paralogues. Ubiquitous expression in spleen (RPKM 29.0), lymph node (RPKM 26.3) and 25 other tissues.

Summary

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-Selectin, and may function in the intracellular trafficking of P-Selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]

SNX17 Products(4)

mRNA Protein Name
NM_001267059.2 NP_001253988.1 sorting nexin-17 isoform 2
NM_001267060.2 NP_001253989.1 sorting nexin-17 isoform 3
NM_001267061.2 NP_001253990.1 sorting nexin-17 isoform 4
NM_014748.4 NP_055563.1 sorting nexin-17 isoform 1

SNX17 Protein Structure

PX

PX: PX domain (11 - 103)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 470 a.a.
Protein Preferred Names Protein Names

sorting nexin-17

Related Diseases

Diseases Alias
Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive

Arh

FHCL4

Autosomal Recessive Hypercholesterolemia

Arh1

Arh2

Autosomal Recessive Hypercholesterolemia 1

Autosomal Recessive Hypercholesterolemia 2

Fhcb1

Fhcb2

Hypercholesterolemia, Autosomal Recessive, 1, Formerly

Arh1, Formerly

Fhcb1, Formerly

Hypercholesterolemia, Autosomal Recessive, 2, Formerly

Arh2, Formerly

Fhcb2, Formerly

Familial Autosomal Recessive Hypercholesterolemia

Hypercholesterolemia, Familial, Autosomal Recessive

Hypercholesterolemia, Familial, Type 4

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SNX17 RGD RGD:1306424
Mus musculus SNX17 MGD MGI:2387801
Macaca mulatta SNX17 VGNC VGNC:77709
Bos taurus SNX17 VGNC VGNC:35097
Canis familiaris SNX17 VGNC VGNC:46626
Felis catus SNX17 VGNC VGNC:65547